DLX1
Homeobox protein DLX-1
Also known as: DLX1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P56177
- Gene
- DLX1
- Ensembl
- ENSG00000144355
- Chromosome
- 2
- Canonical length
- 255 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Vesicles,Cytosol
OverviewNCBI Gene
This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation and survival of inhibitory neurons in the forebrain. This gene is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 2. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
255 residues, UniProt reviewed canonical sequence.
>P56177|DLX1
1 MTMTTMPESL NSPVSGKAVF MEFGPPNQQM SPSPMSHGHY SMHCLHSAGH SQPDGAYSSA
61 SSFSRPLGYP YVNSVSSHAS SPYISSVQSY PGSASLAQSR LEDPGADSEK STVVEGGEVR
121 FNGKGKKIRK PRTIYSSLQL QALNRRFQQT QYLALPERAE LAASLGLTQT QVKIWFQNKR
181 SKFKKLMKQG GAALEGSALA NGRALSAGSP PVPPGWNPNS SSGKGSGGNA GSYIPSYTSW
241 YPSAHQEAMQ QPQLMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DLX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.65
- Highest tissue expression
- 17 nTPM
Expression across tissuesHPA
Tissue
- hypothalamus: 17 nTPM
- cerebral cortex: 12 nTPM
- amygdala: 7.8 nTPM
- hippocampal formation: 4.4 nTPM
- basal ganglia: 2.4 nTPM
- adrenal gland: 1.2 nTPM
Single-cell type
- other brain neurons: 19 nCPM
- brain inhibitory neurons: 18 nCPM
- schwann cells: 14 nCPM
- tuft cells: 12 nCPM
- adrenal medulla cells: 11 nCPM
- megakaryocytes: 6.2 nCPM
Immune cell
- plasmacytoid DC: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- hypothalamus: 44 nTPM
- basal ganglia: 14 nTPM
- cerebral cortex: 11 nTPM
- white matter: 8.2 nTPM
- amygdala: 6.2 nTPM
- hippocampal formation: 5.6 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.29
- gnomAD pLI
- 0.96
- gnomAD missense Z
- 1.82
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell differentiation
- cellular response to BMP stimulus
- cellular response to transforming growth factor beta stimulus
- cerebral cortex GABAergic interneuron fate commitment
- embryonic skeletal system development
- forebrain neuron fate commitment
- hippocampus development
- negative regulation of BMP signaling pathway
- negative regulation of cellular response to transforming growth factor beta stimulus
- negative regulation of neuron apoptotic process
- negative regulation of Notch signaling pathway
- negative regulation of oligodendrocyte differentiation
- negative regulation of photoreceptor cell differentiation
- negative regulation of transcription by RNA polymerase II
- neuroblast differentiation
- neuron apoptotic process
- Notch signaling pathway
- odontogenesis of dentin-containing tooth
- oligodendrocyte differentiation
- positive regulation of amacrine cell differentiation
- positive regulation of cell differentiation
- positive regulation of transcription by RNA polymerase II
- proximal/distal pattern formation
- regulation of transcription by RNA polymerase II
- subpallium development
Molecular functions
- chromatin binding
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DLX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DLX1 as an antibody target. Whether an autoantibody or antibody against DLX1 could matter depends on whether native DLX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DLX1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DLX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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